ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) (rs121908978)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007345 SCV000793511 likely pathogenic Glucose-6-phosphate transport defect 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000007345 SCV000960555 pathogenic Glucose-6-phosphate transport defect 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 28 of the SLC37A4 protein (p.Arg28His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121908978, ExAC 0.006%). This variant has been observed to be homozygous or in combination with another SLC37A4 variant in several individuals affected with glycogen storage disease (PMID: 10026167, 27066451, 28224773). ClinVar contains an entry for this variant (Variation ID: 6933). Experimental studies have shown that this missense change results in a SLC37A4 protein with reduced G6P uptake and reduced phosphohydrolase activity (PMID: 10026167, 12444104, 18835800, 18337460). The observation of one or more missense substitutions at this codon (p.Arg28His and p.Arg28Cys) in affected individuals suggests that this may be a clinically significant residue (PMID: 10518030, 10026167, 27066451, 28224773). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007345 SCV000027543 pathogenic Glucose-6-phosphate transport defect 1999-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059144 SCV000090673 not provided not provided no assertion provided not provided

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